Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001171734 | SCV001334567 | pathogenic | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV002290609 | SCV002580189 | likely pathogenic | Autosomal dominant optic atrophy classic form | 2022-06-22 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002290609 | SCV004027668 | pathogenic | Autosomal dominant optic atrophy classic form | 2023-05-08 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS4_SUP,PM2_SUP |